title: Eye findings in X-linked lymphoproliferative disorder.
abstract: BACKGROUND
  X-linked lymphoproliferative disorder typically presents as an Epstein-Barr virus-specific immune defect with a poor prognosis. Herein we present the clinical and pathologic findings for the first known case of X-linked lymphoproliferative disorder with visual symptoms at initial presentation.
  
  
  METHODS
  Retrospective chart review, clinicopathologic correlation (brain biopsy and postmortem brain and eye tissue), and literature review.
  
  
  RESULTS
  An 18-year-old boy had a unique presentation of X-linked lymphoproliferative disorder with visual symptoms and retinal findings. He subsequently developed central nervous system vasculitis. He never had evidence of Epstein-Barr virus infection during his clinical course, but in situ hybridization was positive in scattered cells in the brain postmortem. Eye pathologic examination at autopsy showed ischemic changes, but no inflammation.
  
  
  CONCLUSIONS
  When a young patient presents with cotton wool spots, a thorough workup must be done, and immunologic disorders should be considered in the differential diagnosis. X-linked lymphoproliferative disorder-associated eye findings may not always be associated with Epstein-Barr virus infection and, as demonstrated by this case, can be indicative of an underlying vasculitic process.
authors.affiliation: Scheie Eye Institute, and Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Sudha
authors.initials: S
authors.lastname: Nallasamy
authors.forename: Ralph C
authors.initials: RC
authors.lastname: Eagle
authors.forename: Lucy
authors.initials: L
authors.lastname: Rorke-Adams
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Brucker
mesh_terms: D000212:Acyclovir / Q000627:therapeutic use; D000293:Adolescent; D000998:Antiviral Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D020031:Epstein-Barr Virus Infections / Q000175:diagnosis / Q000188:drug therapy / Q000821:virology; D017809:Fatal Outcome; D004854:Herpesvirus 4, Human; D006801:Humans; D017403:In Situ Hybridization; D007511:Ischemia / Q000175:diagnosis* / Q000188:drug therapy / Q000821:virology; D008232:Lymphoproliferative Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000821:virology; D008297:Male; D022401:Meningococcal Vaccines / Q000008:administration & dosage; D060888:Real-Time Polymerase Chain Reaction; D012164:Retinal Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000821:virology; D012171:Retinal Vessels / Q000473:pathology*; D012189:Retrospective Studies; D017193:Skin Diseases, Viral / Q000175:diagnosis / Q000188:drug therapy / Q000821:virology; D020293:Vasculitis, Central Nervous System / Q000175:diagnosis / Q000188:drug therapy / Q000821:virology
chemical_list: D000998:Antiviral Agents; D022401:Meningococcal Vaccines; D000212:Acyclovir